ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen.

Lee, Ashley Sang Eun; Abraham, Roshini S; Basu, Amrita; Lederman, Howard; Cunningham-Rundles, Charlotte

Lee, Ashley Sang Eun; Abraham, Roshini S; Basu, Amrita; Lederman, Howard; Cunningham-Rundles, Charlotte.

Affiliation

Lee ASE; Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: ashleysangeun.lee@mssm.edu.
Abraham RS; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA. Electronic address: Roshini.Abraham@nationwidechildrens.org.
Basu A; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA. Electronic address: Amrita.Basu@nationwidechildrens.org.
Lederman H; Division of Allergy and Immunology, Johns Hopkins Children's Center, Baltimore, MD, USA. Electronic address: hlederm1@jhmi.edu.
Cunningham-Rundles C; Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: charlotte.cunningham-rundles@mssm.edu.

Clin Immunol ; 265: 110294, 2024 Aug.

Article in En | MEDLINE | ID: mdl-38914360

Subject(s)
Key words

DNA double strand breaks; Gamma-H2AX; Lymphocytes; Lymphopenia; Phosphorylated ATM; Severe combined immunodeficiency; TREC; ataxia telangiectasia

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ataxia Telangiectasia / Neonatal Screening / Ataxia Telangiectasia Mutated Proteins / Heterozygote / Mutation Limits: Female / Humans / Male / Newborn Language: En Journal: Clin Immunol / Clin. immunol / Clinical immunology Journal subject: ALERGIA E IMUNOLOGIA Year: 2024 Document type: Article Country of publication: Estados Unidos

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